Associated Papers
Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.
Berends M et al.
Journal of Clinical Medicine, 2026
Early Detection of Central Nervous System Involvement in ATTRv Using Multimodal MRI and Cognitive Assessments.
de França Nunes RF et al.
European Journal of Neurology, 2026
Multicenter study of patients with transthyretin cardiac amyloidosis in Poland: Clinical characteristics, genotyping, electrocardiographic features, outcome predictors, and tafamidis treatment outcomes.
Gawor-Prokopczyk M et al.
Kardiologia Polska, 2026
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Domínguez-Martínez M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female.
Huang L et al.
Bmc Neurology, 2025
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.
Ventayol-Guirado M et al.
Scientific Reports, 2025
Hereditary transthyretin cardiac amyloidosis with Glu109Lys mutation presenting with low sensitivity to 99mTc pyrophosphate in scintigraphy: a case description.
Wei YP et al.
Quantitative Imaging in Medicine and Surgery, 2025
Advanced echocardiographic assessment in transthyretin amyloidosis: early phenotype markers in mutation carriers.
Squassante Capeline L et al.
European Heart Journal. Cardiovascular Imaging, 2025
Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.
Holcman K et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2025
Transthyretin-related amyloid cardiomyopathy: A single-center experience in southern Poland, an endemic area.
Holcman K et al.
Kardiologia Polska, 2025
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.
Losada López I et al.
Journal of Clinical Medicine, 2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Altered connectivity of central autonomic network: effects of dysautonomia in hereditary transthyretin amyloidosis with polyneuropathy.
Su TJ et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024
Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys, and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis.
Gawor-Prokopczyk M et al.
Polish Archives of Internal Medicine, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.
Rösner S et al.
Journal of Clinical Medicine, 2024
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study.
Galán Dávila L et al.
Orphanet Journal of Rare Diseases, 2024
Diflunisal versus tafamidis on neuropathy and cardiomyopathy in hereditary transthyretin amyloidosis.
Chao CC et al.
Annals of Clinical and Translational Neurology, 2024
Determinants of transthyretin levels and their association with adverse clinical outcomes among UK Biobank participants.
Shetty NS et al.
Nature Communications, 2024
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
Fernandes F et al.
Orphanet Journal of Rare Diseases, 2024
Results of a population screening program for hereditary transthyretin amyloidosis.
de Frutos F et al.
Revista Espanola De Cardiologia (english Ed.), 2024
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Cardiology and Therapy, 2024
Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?
Tingen HSA et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2024
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L et al.
Orphanet Journal of Rare Diseases, 2023
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
de Frutos F et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Coelho T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy.
Maestro-Benedicto A et al.
European Journal of Heart Failure, 2022
Prognosis of Transthyretin Cardiac Amyloidosis Without Heart Failure Symptoms.
Gonzalez-Lopez E et al.
Jacc. Cardiooncology, 2022
Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy.
Lin YH et al.
Annals of Clinical and Translational Neurology, 2022
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Dispenzieri A et al.
Orphanet Journal of Rare Diseases, 2022
Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis.
Gawor M et al.
Cardiology Journal, 2022
A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Neurology and Therapy, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis.
Louwsma J et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Clinical profile and outcome of cardiac amyloidosis in a Spanish referral center.
López-Sainz Á et al.
Revista Espanola De Cardiologia (english Ed.), 2021
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Hereditary transthyretin-related amyloidosis.
Finsterer J et al.
Acta Neurologica Scandinavica, 2019
Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS).
Cruz MW et al.
Arquivos De Neuro-psiquiatria, 2019
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
Carr AS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
Jang MA et al.
Annals of Human Genetics, 2015
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Gondim FAA et al.
Arquivos Brasileiros De Oftalmologia, 0